ABOUT – ProDGNE

What is ProDGNE?

ProDGNE is a 3 year transnational pre-clinical research project which aims to develop an innovative therapeutic compound to treat GNE Myopathy (GNEM), an ultra rare muscle disease affecting young adults.

ProDGNE representes a unique joint collaboration among patients, European and Canadian experts in clinical GNEM, sialic acid, organic synthesis, and -OMIC Technologies.

The project is funded in the framework of the European Joint Programme on Rare Diseases (EJP RD) Joint Transnational Call 2020 “Pre-Clinical Research to Develop Effective Therapies for Rare Diseases”.

ProDGNE receives funding from the European Commission (EC) under the Horizon 2020 EJP-COFUND action and the following funding organisations:

FCT - Foundation for Science and Technology (Portugal)
DFG - German Research Foundation (Germany);
MUR - Ministry of Universities and Research (Italy)
CIHR - Canadian Institutes of Health Research – Institute of Genetics (Canada)
INSERM (France)

ProDGNE

Objectives

ADVANCE RESEARCH IN GNEM

The steps for impactful research in an ultra rare disease like GNEM by expanding the GNEM research network and building a long term partnership where patients are central partners and key drivers in Research and Development (R&D).

MAKE EARLY PATIENT PARTNESHIP THE FOUNDATION OF OUR RESEARCH

The knowledge base of ultra-rare diseases like GNEM is scarce and we believe the challenging steps toward drug discovery need to be driven and guided by the biggest experts: patients with a lived experience of the disease. ProDGNE aims to prove the benefits of working WITH patients early in the research roadmap and that the key for impactful research is having all stakeholders working closely with patients to develop together a journey of shared decision making.

DEVELOP A PRODRUG AND IDENTIFY BIOMARKERS

The project fosters early (pre-clinical) stage development of an innovative class of drugs, called prodrugs, and improved delivery strategies to restore defects derived from GNE mutations. The prodrug is expected to become an active therapy when processed within cells, increasing sialic acid in GNEM patient cells and demonstrating a higher stability and better bioavailability than clinically tested drugs. Benefits for patients, when reaching clinical phases, will include reduced toxicity caused by a lower therapeutically effective dosage and better absorption, making ProDGNE a potential effective and safer oral medicine. In addition, the identification of novel biomarkers will assist in the assessment for efficacy of this therapy in clinical trials.

ENSURE CROSS-BORDER COLLABORATION

The consortium will work closely with clinical and patient partners and will address the International Rare Diseases Research Consortium (IRDiRC) goals to foster the approval of therapies for rare diseases without approved options. ProDGNE will follow IRDiRC Guidelines to fill the knowledge gaps in GNEM, establish a target product profile addressing unmet medical needs, avoid delays in development, and expedite timeline of regulatory approval.